Have questions? Visit https://www.reddit.com/r/SNPedia

rs587779616

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779616(G;T)
Make rs587779616(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997381
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779616
ebirs587779616
HLIrs587779616
Exacrs587779616
Varsomers587779616
Maprs587779616
PheGenIrs587779616
hapmaprs587779616
1000 genomesrs587779616
hgdprs587779616
ensemblrs587779616
gopubmedrs587779616
geneviewrs587779616
scholarrs587779616
googlers587779616
pharmgkbrs587779616
gwascentralrs587779616
openSNPrs587779616
23andMers587779616
23andMe allrs587779616
SNP Nexus

SNPshotrs587779616
SNPdbers587779616
MSV3drs587779616
GWAS Ctlgrs587779616
Max Magnitude0
ClinVar
Risk rs587779616(C,T;C,T)
Alt rs587779616(C,T;C,T)
Reference rs587779616(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189862107G>C; NC_000002.11:g.189862107G>T
CLNSRC
CLNACC RCV000087680.1, RCV000087574.1,